Submissions for variant NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)

gnomAD frequency: 0.00076  dbSNP: rs140364657

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000644537	SCV000766237	benign	Hypercholesterolemia, autosomal dominant, 3	2024-01-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771236	SCV000903335	benign	Familial hypercholesterolemia	2018-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001592794	SCV001824637	likely benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406407	SCV002717134	likely benign	Cardiovascular phenotype	2018-02-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003117450	SCV003801301	benign	not specified	2023-01-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001592794	SCV004222371	benign	not provided	2023-03-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001592794	SCV004564247	benign	not provided	2023-09-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000644537	SCV004844465	benign	Hypercholesterolemia, autosomal dominant, 3	2024-02-05	criteria provided, single submitter	clinical testing